Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
POR_chr7_75910155_75991855	75989015	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	278	0.0036	21	c.25 others(32): Show c.2534_*2535insAGGGGAAGGCCGGGTGGGTGT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2161		chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(19): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG01169.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 NA18942.hp2 NA18948.hp2 NA18968.hp1 NA18982.hp1 NA18986.hp1 NA19004.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19081.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0005 a0001c0001 a0001c0011 a0003c0005	a0001c0001t0001 a0001c0011t0001 a0003c0005t0001 a0001c0001t0001 a0001c0011t0001 a0003c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0205 a0001c0001t0001g0208 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0011t0001g0277 a0003c0005t0001g0252	22	346	0.0636	21	c.62 others(32): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAA		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding					4696		chr7	TogoVar
POTEB3_chr15_21400401_21445499	21413542	A A	ATATATAT others(14): Show ATATATATATATTAAAGAAAAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0019 a0006c0011t0019	a0006c0011t0019g0037 a0006c0011t0019g0037	1	54	0.0185	21	c.141 others(40): Show c.1410-2542_1410-2541insATTTTCTTTAATATATATATA		POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	9/10						chr15	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00099.hp1 HG00140.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0017 a0002c0002 a0014c0017	a0002c0002t0002 a0014c0017t0002 a0002c0002t0002 a0014c0017t0002	a0002c0002t0002g0072 a0014c0017t0002g0074 a0002c0002t0002g0072 a0014c0017t0002g0074	2	416	0.0048	21	c.141 others(40): Show c.1410-2510_1410-2509insATATATATATATATATATATT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0234	1	416	0.0024	21	c.47 others(32): Show c.4721_*4722insAAAAAAAAAAAAAAAAAACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18948.hp2 NA18963.hp1 others(1): Show HG03491.hp2 NA18948.hp2 NA18963.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0002g0006 a0001c0001t0006g0320 a0001c0003t0002g0348 a0001c0001t0002g0006 a0001c0001t0006g0320 a0001c0003t0002g0348	4	380	0.0105	21	c.121 others(38): Show c.121-4944_121-4943insAAAAAAATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0356	1	380	0.0026	21	c.121 others(38): Show c.121-4944_121-4943insAAATATATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	380	0.0026	21	c.121 others(38): Show c.121-1340_121-1339insAAATATATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01993.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0106 a0001c0001t0002g0107	2	380	0.0053	21	c.121 others(38): Show c.121-1341_121-1340insTATATATATATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2F1_chr1_167215886_167432340	167358716	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02818.hp1 others(3): Show HG02559.hp1 HG02622.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 others(3): Show a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0282	6	292	0.0206	21	c.128 others(38): Show c.128-6750_128-6730dupTTTTTTTTTTTTTTTTTTTTT		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU4F2_chr4_146633893_146647474	146639305	T T	TGGCGGCG others(14): Show TGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02280.hp2 HG03209.hp1 HG02280.hp2 HG03209.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0002 a0010c0012t0001g0002	2	414	0.0048	21	c.180 others(28): Show c.180_200dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly61_Gly67dup	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	449/3144	201/1230	67/409		INFO_REALIGN_3_PRIME	chr4	TogoVar
POU6F2_chr7_38972909_39473601	39005515	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	170	0.0059	21	c.105 others(40): Show c.105+27457_105+27458insGTGTGTGTGTGTGTGTGTGTG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar
PPARA_chr22_46145526_46248755	46205554	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	200	0.0050	21	c.208 others(38): Show c.208+6964_208+6965insATATATATATATATATATATT		PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20300.hp2 HG01175.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0080 a0001c0002t0003g0067 a0001c0002t0003g0080	2	238	0.0084	21	c.-10 others(42): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTT		PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35377874	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02647.hp2 others(8): Show HG02055.hp1 HG02486.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0001t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0002t0004g0076 a0001c0002t0006g0069	11	238	0.0462	21	c.-10 others(42): Show c.-102+30732_-102+30733insTTTTTTTTTTTTCTTTTTTTT		PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARG_chr3_12284070_12439344	12406532	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG02074.hp2 others(8): Show HG00423.hp2 HG00735.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 NA18953.hp1 NA18956.hp1 NA18966.hp1 NA18972.hp1 NA18995.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0098 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0002t0001g0109 a0001c0002t0001g0140 a0001c0002t0001g0141	11	294	0.0374	21	c.729 others(36): Show c.729+456_729+476dupTTTTTTTTTTTTTTTTTTTTT		PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPCS_chr1_42451543_42466236	42462748	C C	CCTGAATT others(14): Show CCTGAATTTTCAGTGCTTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	396	0.0025	21	c.28 others(32): Show c.2822_*2823insCTGAATTTTCAGTGCTTAGGA		PPCS	ENSG00000127125.9	transcript	ENST00000372561.4	protein_coding					1513		chr1	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	270	0.0037	21	c.37 others(32): Show c.3784_*3785insAAATATATATATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19003.hp2 NA20752.hp2 NA18612.hp2 NA19003.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0120	3	270	0.0111	21	c.37 others(32): Show c.3784_*3785insAAAAATATATATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	270	0.0037	21	c.37 others(32): Show c.3784_*3785insAAAAAAATATATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0216 a0007c0009t0001g0216	1	270	0.0037	21	c.37 others(32): Show c.3784_*3785insAAAAAAAAATATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02132.hp2 HG02056.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0001g0108 a0001c0001t0001g0141	2	270	0.0074	21	c.37 others(32): Show c.3784_*3785insAAAAAAAAAAATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	270	0.0037	21	c.37 others(32): Show c.3784_*3785insAAAAAAAAAAAAAAATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0006 a0001c0003t0009g0006	1	282	0.0036	21	c.264 others(38): Show c.264+4625_264+4626insATATATATATATATATTTTTT		PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATATA others(14): Show TGTATATATTATATACATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01243.hp1 others(11): Show HG00558.hp2 HG00639.hp1 HG01243.hp1 HG02083.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03654.hp2 NA18960.hp2 NA18964.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0004t0002	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0002g0067 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0140 a0001c0002t0001g0165 a0001c0002t0004g0085 a0001c0002t0007g0002 a0001c0004t0002g0137	14	168	0.0833	21	c.303 others(40): Show c.303+34087_303+34088insGTGTATGTATATAATATATAC		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81642734	T T	TGTATTAT others(14): Show TGTATTATATACATACATACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	168	0.0060	21	c.303 others(40): Show c.303+34056_303+34057insGTGTATGTATGTATATAATAC		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81688811	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	168	0.0060	21	c.250 others(40): Show c.250-11968_250-11967insATATATATATATATATATATA		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	3/32						chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49137628	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp1 HG02976.hp2 others(1): Show HG02451.hp2 HG02683.hp1 HG02976.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0002g0137 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0002g0137 a0001c0001t0002g0331	4	362	0.0111	21	c.185 others(38): Show c.1854-567_1854-547dupAAAAAAAAAAAAAAAAAAAAA		PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPFIBP1_chr12_27519206_27700564	27644244	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03831.hp1 NA20752.hp2 HG01167.hp1 HG03831.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0111 a0001c0001t0002g0094 a0001c0001t0001g0012 a0001c0001t0001g0111 a0001c0001t0002g0094	3	314	0.0096	21	c.271 others(38): Show c.271-1813_271-1793dupTTTTTTTTTTTTTTTTTTTTT		PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	4/29					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42360458	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18973.hp1 HG02129.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0209 a0001c0001t0002g0213	2	376	0.0053	21	c.299 others(38): Show c.299+5245_299+5265dupTTTTTTTTTTTTTTTTTTTTT		PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42404528	T T	TCAACAAC others(14): Show TCAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02109.hp2 others(14): Show HG00741.hp2 HG01109.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 others(13): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0003g0001 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0005g0111	17	376	0.0452	21	c.909 others(38): Show c.909+5538_909+5558dupCAACAACAACAACAACAACAA		PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIAL4C_chr1_149578848_149589607	149583527	A A	AAAGAAAG others(14): Show AAAGAAAGAAAAGAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	448	0.0022	21	c.-37 others(30): Show c.-371_-370insAAGAAAGAAAAGAAAAGAAAG		PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding					320		chr1	TogoVar
PPIL2_chr22_21661012_21702907	21662589	A A	AGAGATGG others(14): Show AGAGATGGAGACCATCCTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02257.hp1 others(4): Show HG00741.hp2 HG01109.hp2 HG02257.hp1 HG02717.hp2 HG02922.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0179 a0001c0001t0007g0180 others(2): Show a0001c0001t0007g0006 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182	7	378	0.0185	21	c.-35 others(32): Show c.-3511_-3510insGAGATGGAGACCATCCTGGCC		PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding					3422		chr22	TogoVar
PPL_chr16_4877507_4942148	4889241	G G	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0010 a0016c0021t0010	a0016c0021t0010g0106 a0016c0021t0010g0106	1	372	0.0027	21	c.231 others(38): Show c.2314-181_2314-180insAAAAAAAAAAAAAAAAAAAAC		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	18/21						chr16	TogoVar
PPL_chr16_4877507_4942148	4937137	G G	GGAGCCCG others(14): Show GGAGCCCGGACTGCGGCGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0018 a0002c0018t0018	a0002c0018t0018g0370 a0002c0018t0018g0370	1	372	0.0027	21	c.-11 others(29): Show c.-113_-93dupGCCGCGCCGCAGTCCGGGCTC		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/22				93		chr16	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAAAATAC others(14): Show AAAAATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03225.hp2 NA18906.hp1 HG02280.hp2 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158	3	358	0.0084	21	c.-20 others(32): Show c.-2034_-2033insAAAATACATATATATATATAT		PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding					1619		chr2	TogoVar
PPM1B_chr2_44163875_44236472	44236402	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG03688.hp2 NA19240.hp1 HG01099.hp1 HG03688.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0307 a0001c0001t0001g0331 a0001c0001t0001g0210 a0001c0001t0001g0307 a0001c0001t0001g0331	3	358	0.0084	21	c.56 others(32): Show c.5684_*5685insAAAAAAAAAAAAAAAAAAAAA		PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding					4931		chr2	TogoVar
PPM1E_chr17_58750854_58990179	58830292	G G	GTTATTAT others(14): Show GTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	312	0.0032	21	c.464 others(40): Show c.464+73843_464+73863dupATTATTATTATTATTATTATT		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1G_chr2_27376199_27414591	27410763	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01106.hp2 others(37): Show HG00323.hp1 HG00597.hp2 HG01106.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02735.hp1 HG02886.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18950.hp2 NA18966.hp1 NA18981.hp2 NA18988.hp1 NA19000.hp1 NA19072.hp1 NA19079.hp1 NA19085.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164	40	260	0.1539	21	c.-13 others(32): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAA		PPM1G	ENSG00000115241.11	transcript	ENST00000344034.5	protein_coding					1173		chr2	TogoVar
PPM1H_chr12_62638994_62940150	62639624	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01943.hp2 HG01993.hp2 others(1): Show HG00140.hp1 HG01943.hp2 HG01993.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0016 a0001c0002t0003 a0001c0001t0003 a0001c0001t0016 a0001c0002t0003	a0001c0001t0003g0101 a0001c0001t0016g0081 a0001c0002t0003g0050 others(1): Show a0001c0001t0003g0101 a0001c0001t0016g0081 a0001c0002t0003g0050 a0001c0002t0003g0100	4	252	0.0159	21	c.88 others(32): Show c.8864_*8865insAAAAAAAAAAAAAAAAAAAAA		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding					4369		chr12	TogoVar
PPM1H_chr12_62638994_62940150	62839874	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG03225.hp1 HG02145.hp1 HG02886.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0011 a0001c0002t0013 a0002c0006t0015 a0001c0001t0011 a0001c0002t0013 a0002c0006t0015	a0001c0001t0011g0007 a0001c0002t0013g0148 a0002c0006t0015g0244 a0001c0001t0011g0007 a0001c0002t0013g0148 a0002c0006t0015g0244	3	252	0.0119	21	c.246 others(38): Show c.246-7596_246-7595insTTTTTTTTTTTTTTTTTTTTT		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9						chr12	TogoVar
PPM1H_chr12_62638994_62940150	62932628	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	252	0.0040	21	c.245 others(38): Show c.245+1843_245+1863dupAAAAAAAAAAAAAAAAAAAAA		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9						chr12	TogoVar
PPM1L_chr3_160751231_161083902	160835039	A A	ACTACTTC others(14): Show ACTACTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	206	0.0049	21	c.399 others(40): Show c.399+78334_399+78335insACTTCTTCTTCTTCTTCTTCT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160835039	A A	ACTTCTTC others(14): Show ACTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18947.hp2 NA19084.hp1 others(1): Show HG02523.hp2 NA18947.hp2 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017	a0001c0001t0003g0176 a0001c0001t0005g0019 a0001c0001t0007g0175 others(1): Show a0001c0001t0003g0176 a0001c0001t0005g0019 a0001c0001t0007g0175 a0001c0001t0017g0108	4	206	0.0194	21	c.399 others(40): Show c.399+78360_399+78380dupCTTCTTCTTCTTCTTCTTCTT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160835086	T T	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0187 a0001c0001t0021g0187	1	206	0.0049	21	c.399 others(40): Show c.399+78380_399+78381insCTTCTTCTTCTTCTTCTTTCT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160954956	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0159 a0001c0001t0026g0159	1	206	0.0049	21	c.400 others(38): Show c.400-6774_400-6773insCCTTCCTTCCTTCCTTTCCTT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp2 HG00738.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0071 a0001c0002t0002g0050 a0001c0002t0002g0071	2	366	0.0055	21	c.592 others(38): Show c.592+1095_592+1115dupTTTTTTTTTTTTTTTTTTTTT		PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R10_chr6_30595413_30622243	30605860	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02572.hp2 HG02622.hp1 others(2): Show HG02040.hp1 HG02572.hp2 HG02622.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0052 a0001c0001t0002g0148 a0001c0001t0002g0151 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0010g0062	5	459	0.0109	21	c.853 others(34): Show c.853+62_853+63insTTTTTTTTTTTTTTTTTTTTT		PPP1R10	ENSG00000204569.10	transcript	ENST00000376511.7	protein_coding	10/19						chr6	TogoVar
PPP1R12A_chr12_79768568_79940097	79801345	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19065.hp1 HG00408.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0175 a0001c0001t0003g0162 a0001c0001t0003g0175	2	312	0.0064	21	c.200 others(40): Show c.2001-2782_2001-2762dupTTTTTTTTTTTTTTTTTTTTT		PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	14/24						chr12	TogoVar
PPP1R12C_chr19_55085918_55122637	55120658	G G	GATGAATA others(14): Show GATGAATAAGAAAGAGTCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	390	0.0026	21	c.-31 others(32): Show c.-3116_-3115insTAGGGACTCTTTCTTATTCAT		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding					3022		chr19	TogoVar

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